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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

dc.contributor.authorDunning, AM
dc.contributor.authorMichailidou, K
dc.contributor.authorKuchenbaecker, KB
dc.contributor.authorThompson, D
dc.contributor.authorFrench, JD
dc.contributor.authorBeesley, J
dc.contributor.authorHealey, CS
dc.contributor.authorKar, S
dc.contributor.authorPooley, KA
dc.contributor.authorLopez-Knowles, E
dc.contributor.authorDicks, E
dc.contributor.authorBarrowdale, D
dc.contributor.authorSinnott-Armstrong, NA
dc.contributor.authorSallari, RC
dc.contributor.authorHillman, KM
dc.contributor.authorKaufmann, S
dc.contributor.authorSivakumaran, H
dc.contributor.authorMoradi Marjaneh, M
dc.contributor.authorLee, JS
dc.contributor.authorHills, M
dc.contributor.authorJarosz, M
dc.contributor.authorDrury, S
dc.contributor.authorCanisius, S
dc.contributor.authorBolla, MK
dc.contributor.authorDennis, J
dc.contributor.authorWang, Q
dc.contributor.authorHopper, JL
dc.contributor.authorSouthey, MC
dc.contributor.authorBroeks, A
dc.contributor.authorSchmidt, MK
dc.contributor.authorLophatananon, A
dc.contributor.authorMuir, K
dc.contributor.authorBeckmann, MW
dc.contributor.authorFasching, PA
dc.contributor.authorDos-Santos-Silva, I
dc.contributor.authorPeto, J
dc.contributor.authorSawyer, EJ
dc.contributor.authorTomlinson, I
dc.contributor.authorBurwinkel, B
dc.contributor.authorMarme, F
dc.contributor.authorGuénel, P
dc.contributor.authorTruong, T
dc.contributor.authorBojesen, SE
dc.contributor.authorFlyger, H
dc.contributor.authorGonzález-Neira, A
dc.contributor.authorPerez, JIA
dc.contributor.authorAnton-Culver, H
dc.contributor.authorEunjung, L
dc.contributor.authorArndt, V
dc.contributor.authorBrenner, H
dc.contributor.authorMeindl, A
dc.contributor.authorSchmutzler, RK
dc.contributor.authorBrauch, H
dc.contributor.authorHamann, U
dc.contributor.authorAittomäki, K
dc.contributor.authorBlomqvist, C
dc.contributor.authorIto, H
dc.contributor.authorMatsuo, K
dc.contributor.authorBogdanova, N
dc.contributor.authorDörk, T
dc.contributor.authorLindblom, A
dc.contributor.authorMargolin, S
dc.contributor.authorKosma, V-M
dc.contributor.authorMannermaa, A
dc.contributor.authorTseng, C-C
dc.contributor.authorWu, AH
dc.contributor.authorLambrechts, D
dc.contributor.authorWildiers, H
dc.contributor.authorChang-Claude, J
dc.contributor.authorRudolph, A
dc.contributor.authorPeterlongo, P
dc.contributor.authorRadice, P
dc.contributor.authorOlson, JE
dc.contributor.authorGiles, GG
dc.contributor.authorMilne, RL
dc.contributor.authorHaiman, CA
dc.contributor.authorHenderson, BE
dc.contributor.authorGoldberg, MS
dc.contributor.authorTeo, SH
dc.contributor.authorYip, CH
dc.contributor.authorNord, S
dc.contributor.authorBorresen-Dale, A-L
dc.contributor.authorKristensen, V
dc.contributor.authorLong, J
dc.contributor.authorZheng, W
dc.contributor.authorPylkäs, K
dc.contributor.authorWinqvist, R
dc.contributor.authorAndrulis, IL
dc.contributor.authorKnight, JA
dc.contributor.authorDevilee, P
dc.contributor.authorSeynaeve, C
dc.contributor.authorFigueroa, J
dc.contributor.authorSherman, ME
dc.contributor.authorCzene, K
dc.contributor.authorDarabi, H
dc.contributor.authorHollestelle, A
dc.contributor.authorvan den Ouweland, AMW
dc.contributor.authorHumphreys, K
dc.contributor.authorGao, Y-T
dc.contributor.authorShu, X-O
dc.contributor.authorCox, A
dc.contributor.authorCross, SS
dc.contributor.authorBlot, W
dc.contributor.authorCai, Q
dc.contributor.authorGhoussaini, M
dc.contributor.authorPerkins, BJ
dc.contributor.authorShah, M
dc.contributor.authorChoi, J-Y
dc.contributor.authorKang, D
dc.contributor.authorLee, SC
dc.contributor.authorHartman, M
dc.contributor.authorKabisch, M
dc.contributor.authorTorres, D
dc.contributor.authorJakubowska, A
dc.contributor.authorLubinski, J
dc.contributor.authorBrennan, P
dc.contributor.authorSangrajrang, S
dc.contributor.authorAmbrosone, CB
dc.contributor.authorToland, AE
dc.contributor.authorShen, C-Y
dc.contributor.authorWu, P-E
dc.contributor.authorOrr, N
dc.contributor.authorSwerdlow, A
dc.contributor.authorMcGuffog, L
dc.contributor.authorHealey, S
dc.contributor.authorLee, A
dc.contributor.authorKapuscinski, M
dc.contributor.authorJohn, EM
dc.contributor.authorTerry, MB
dc.contributor.authorDaly, MB
dc.contributor.authorGoldgar, DE
dc.contributor.authorBuys, SS
dc.contributor.authorJanavicius, R
dc.contributor.authorTihomirova, L
dc.contributor.authorTung, N
dc.contributor.authorDorfling, CM
dc.contributor.authorvan Rensburg, EJ
dc.contributor.authorNeuhausen, SL
dc.contributor.authorEjlertsen, B
dc.contributor.authorHansen, TVO
dc.contributor.authorOsorio, A
dc.contributor.authorBenitez, J
dc.contributor.authorRando, R
dc.contributor.authorWeitzel, JN
dc.contributor.authorBonanni, B
dc.contributor.authorPeissel, B
dc.contributor.authorManoukian, S
dc.contributor.authorPapi, L
dc.contributor.authorOttini, L
dc.contributor.authorKonstantopoulou, I
dc.contributor.authorApostolou, P
dc.contributor.authorGarber, J
dc.contributor.authorRashid, MU
dc.contributor.authorFrost, D
dc.contributor.authorEMBRACE,
dc.contributor.authorIzatt, L
dc.contributor.authorEllis, S
dc.contributor.authorGodwin, AK
dc.contributor.authorArnold, N
dc.contributor.authorNiederacher, D
dc.contributor.authorRhiem, K
dc.contributor.authorBogdanova-Markov, N
dc.contributor.authorSagne, C
dc.contributor.authorStoppa-Lyonnet, D
dc.contributor.authorDamiola, F
dc.contributor.authorGEMO Study Collaborators,
dc.contributor.authorSinilnikova, OM
dc.contributor.authorMazoyer, S
dc.contributor.authorIsaacs, C
dc.contributor.authorClaes, KBM
dc.contributor.authorDe Leeneer, K
dc.contributor.authorde la Hoya, M
dc.contributor.authorCaldes, T
dc.contributor.authorNevanlinna, H
dc.contributor.authorKhan, S
dc.contributor.authorMensenkamp, AR
dc.contributor.authorHEBON,
dc.contributor.authorHooning, MJ
dc.contributor.authorRookus, MA
dc.contributor.authorKwong, A
dc.contributor.authorOlah, E
dc.contributor.authorDiez, O
dc.contributor.authorBrunet, J
dc.contributor.authorPujana, MA
dc.contributor.authorGronwald, J
dc.contributor.authorHuzarski, T
dc.contributor.authorBarkardottir, RB
dc.contributor.authorLaframboise, R
dc.contributor.authorSoucy, P
dc.contributor.authorMontagna, M
dc.contributor.authorAgata, S
dc.contributor.authorTeixeira, MR
dc.contributor.authorkConFab Investigators,
dc.contributor.authorPark, SK
dc.contributor.authorLindor, N
dc.contributor.authorCouch, FJ
dc.contributor.authorTischkowitz, M
dc.contributor.authorForetova, L
dc.contributor.authorVijai, J
dc.contributor.authorOffit, K
dc.contributor.authorSinger, CF
dc.contributor.authorRappaport, C
dc.contributor.authorPhelan, CM
dc.contributor.authorGreene, MH
dc.contributor.authorMai, PL
dc.contributor.authorRennert, G
dc.contributor.authorImyanitov, EN
dc.contributor.authorHulick, PJ
dc.contributor.authorPhillips, K-A
dc.contributor.authorPiedmonte, M
dc.contributor.authorMulligan, AM
dc.contributor.authorGlendon, G
dc.contributor.authorBojesen, A
dc.contributor.authorThomassen, M
dc.contributor.authorCaligo, MA
dc.contributor.authorYoon, S-Y
dc.contributor.authorFriedman, E
dc.contributor.authorLaitman, Y
dc.contributor.authorBorg, A
dc.contributor.authorvon Wachenfeldt, A
dc.contributor.authorEhrencrona, H
dc.contributor.authorRantala, J
dc.contributor.authorOlopade, OI
dc.contributor.authorGanz, PA
dc.contributor.authorNussbaum, RL
dc.contributor.authorGayther, SA
dc.contributor.authorNathanson, KL
dc.contributor.authorDomchek, SM
dc.contributor.authorArun, BK
dc.contributor.authorMitchell, G
dc.contributor.authorKarlan, BY
dc.contributor.authorLester, J
dc.contributor.authorMaskarinec, G
dc.contributor.authorWoolcott, C
dc.contributor.authorScott, C
dc.contributor.authorStone, J
dc.contributor.authorApicella, C
dc.contributor.authorTamimi, R
dc.contributor.authorLuben, R
dc.contributor.authorKhaw, K-T
dc.contributor.authorHelland, Å
dc.contributor.authorHaakensen, V
dc.contributor.authorDowsett, M
dc.contributor.authorPharoah, PDP
dc.contributor.authorSimard, J
dc.contributor.authorHall, P
dc.contributor.authorGarcía-Closas, M
dc.contributor.authorVachon, C
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorAntoniou, AC
dc.contributor.authorEaston, DF
dc.contributor.authorEdwards, SL
dc.date.accessioned2019-07-05T13:44:05Z
dc.date.issued2016-04-01
dc.identifier.citationNature genetics, 2016, 48 (4), pp. 374 - 386
dc.identifier.issn1061-4036
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3285
dc.identifier.eissn1546-1718
dc.identifier.doi10.1038/ng.3521
dc.description.abstractWe analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.
dc.formatPrint-Electronic
dc.format.extent374 - 386
dc.languageeng
dc.language.isoeng
dc.publisherNATURE PUBLISHING GROUP
dc.rights.urihttps://www.rioxx.net/licenses/all-rights-reserved
dc.subjectEMBRACE
dc.subjectGEMO Study Collaborators
dc.subjectHEBON
dc.subjectkConFab Investigators
dc.subjectChromosomes, Human, Pair 6
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectCarrier Proteins
dc.subjectCell Cycle Proteins
dc.subjectEstrogen Receptor alpha
dc.subjectRisk Factors
dc.subjectGene Expression
dc.subjectGene Expression Regulation, Neoplastic
dc.subjectBase Sequence
dc.subjectProtein Binding
dc.subjectPhenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectFemale
dc.subjectGenetic Association Studies
dc.titleBreast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
dc.typeJournal Article
dcterms.dateAccepted2016-02-05
rioxxterms.versionofrecord10.1038/ng.3521
rioxxterms.licenseref.urihttps://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2016-04
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfNature genetics
pubs.issue4
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Endocrinology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Endocrinology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Endocrinology/Endocrinology (hon.)
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Endocrinology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Endocrinology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Endocrinology/Endocrinology (hon.)
pubs.publication-statusPublished
pubs.volume48
pubs.embargo.termsNot known
icr.researchteamComplex Trait Genetics
icr.researchteamAetiological Epidemiology
icr.researchteamEndocrinology
dc.contributor.icrauthorLopez Knowles, Elena
dc.contributor.icrauthorSwerdlow, Anthony


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